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References in periodicals archive ?
Joubert syndrome (and related disorders) (OMIM 213300).
We suggest that PDPR is a new gene responsible for cleft palate and molar tooth sign and possibly presents a variant of Joubert syndrome.
Any awards and acknowledgments are also reported; in particular Neurogenetic Department of Mendel Institute (Rome) acknowledges financial support by ERc (European Research council), the italian Ministry of Health and the US national institutes of Health to work on Joubert Syndrome (chapter 7); authors acknowledge financial support by Muscolar Dystrophy campaign, italian Telethon, italian network on CMD, Great ormond Street children's charity e National Commissioning Group to work on the spectrum of congenital muscular dystrophies (chapter 10).
Joubert Syndrome can be identified on axial magnetic resonance imaging as the molar tooth sign (MTS); other criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements.
The Joubert Syndrome and Related Disorders Foundation (JSRDF) provides information about the condition and other related disorders to families all over the world.
Key words: Joubert Syndrome, INPP5E, nsSNP, insilico analysis, disease prone exons, molecular geneticist.
Joubert syndrome is a rare autosomal recessive disorder affecting the brainstem and cerebellum.
Dr John Sayer, a kidney specialist at Newcastle University and Newcastle's Freeman Hospital, and Dr Colin Miles, a geneticist at the Institute of Genetic Medicine, Newcastle University, have discovered a cell signalling problem which causes cystic kidney disease in Joubert Syndrome.
This study aimed to evaluate the clinical and radiological findings of 9 patients diagnosed with Joubert syndrome.
4), (5) Subsequently, it has become clear that the molar tooth sign is a radiological hallmark that encompasses many syndromes that are now grouped together and termed Joubert syndrome and related disorders (JSRDs).
Washington, July 9 (ANI): Scientists have discovered how genetic mutations cause a number of rare human diseases, such as Meckel syndrome, Joubert syndrome and several other disorders.
Meckel-Gruber syndrome and Joubert syndrome are part of a wider family of disorders known as ciliopathies--so-called because the cilia are not working as they should and do not respond to signals properly.